Day 14 Flashcards
Human herpes virus 3
vs
Human herpes virus 6/7
Human herpes virus 3
itchy rash starting as red macules that develop into vesicles (small blisters) and fever is suspicious for chicken pox. Chickenpox is caused by varicella virus, also known as human herpes virus 3.
Human herpes virus 6/7
HHV 6/7 causes a red lace like rash and high fever in children in a relatively benign condition known as roseola.
A 4 year old girl who recently started school is brought to her GP with a 24 hour history of feeling generally unwell, tiredness and headache. She has been eating and drinking but less than normal. Her mother states that she is usually happy and healthy but seems to have got gradually worse today. No one else in her class has been unwell. She has no past medical history and does not take any regular medications.
On examination the child looks unwell and appears quite withdrawn. Vital signs: pulse 100bpm, BP 110/70, respiratory rate 22/min, oxygen saturations 98%, temperature 38.5 degrees C. Systems examination is unremarkable. She has cold hands and feet and a non-blanching purpuric rash on her left upper thigh.
Her GP refers her to the nearest hospital. What is the most likely test to produce a definitive diagnosis?
Blood culture.
This girl has symptoms and signs in keeping with meningococcal infection. A clinical diagnosis of meningococcal infection is made by blood or CSF culture. Polymerase chain reaction (PCR) testing for Neisseria meningitidis is highly sensitive. Cultures of petechial scrapings do not add anything to PCR testing and blood cultures.
A father brings his 5 day old daughter into the GP practice as he is worried she is not feeding well.
She is exclusively breastfed by her mother.
Her weight at birth was recorded as 4.20 kg.
When weighed by the practice nurse she is noted to be 3.80 kg today.
What is the single best action for the GP to take?
Reassure the father and arrange a follow-up appointment with the baby and mother within 1 week
Correct. This response is most appropriate because it will allow the GP to meet with the mother and baby so any problem with breastfeeding technique can be addressed quickly. The GP will then be able to arrange any further follow-up with the midwife or further referral as appropriate
A 3 year old boy is brought to the GP because he has a rash and red eyes.
His mother says her son developed a non-productive cough, runny nose and red eyes about 4 days ago, and this morning he woke up with a red blotchy rash over his head and face which has since spread onto his chest and arms. His mother also noted white spots in his mouth a few days ago. He is normally healthy. He takes no medicines and has never had any vaccinations, as his parents do not think they are safe.
On examination, the boy appears unhappy but well. His saturations are 99% in air, respiratory rate is 20, heart rate is 82 and capillary refill time is 2 seconds. His temperature is 39.5 degrees. There is an erythematous maculopapular rash across his head, neck, torso and limbs.
What kind of vaccine would have prevented this child’s infection?
Live attenuated vaccine
This unvaccinated child with cough, coryza and conjunctivitis, white spots in the mouth and a rash should raise suspicion for measles infection. Measles is routinely vaccinated against with the MMR, which is a live attenuated vaccine.
A 4 year old boy with asthma is brought to the GP for his asthma review. His mother reports that he is still wheezy at night which sometimes disturbs his sleep. He has had to use his salbutamol inhaler 4 times that week. He is currently on a salbutamol inhaler and beclomethasone inhaler 200 micrograms twice a day.
What is the most appropriate next step in management?
Add in montelukast
According to BTS guidelines, consider the addition of a leukotriene receptor antagonist in those children taking inhaled corticosteroid 200-400 micrograms a day as an initial add-on therapy.
Trials of asthma therapy have shown that at this stage of disease, a montelukast inhaler offers the most benefit.
A 3 year old boy is brought to A&E by his mother who is very worried about him. He has been lethargic for the last 24 hours, not wanting to eat or drink much and his mother says he looks pale compared to normal. Prior to that he was well, with no cough, coryzal symptoms or sign of infection. He has a history of type 1 diabetes mellitus, which is managed with a basal-bolus insulin regime, administered in three daily doses. His blood sugars are well controlled.
On examination the boy is laid down on the bed, rousable to voice but closes his eyes again soon after. There is no visible rash, heart sounds are normal and chest clear on auscultation. He has some mild suprapubic tenderness but no guarding or rigidity of the abdomen. Bowel sounds are normal. Vital observations: temperature 38.4 degrees Celsius, heart rate 120bpm, respiratory rate 24/min, oxygen saturation 98% on room air, blood pressure 100/70.
Which is the following is the most appropriate first-line investigation?
Urinalysis
This boy demonstrates symptoms of sepsis. Given his suprapubic tenderness, it would be appropriate to rule out a urinary tract infection first of all, in addition to a standard septic screen.
You are a FY2 called to see a 3 day old neonate on the postnatal ward.
The baby has had several episodes of green vomiting.
The baby has been urinating every 2 hours or so, but is yet to pass meconium.
The baby was born at 41 weeks.
An abdominal X-ray shows a ‘bubbly’ appearance of the intestine with a lack of air-fluid levels.
Which genetic condition is likely present in this baby?
Cystic fibrosis
This baby, with a delay in passing meconium, bilious (green) vomiting and characteristic abdominal x-ray findings most likely has meconium ileus.
The vast majority (around 90%) of cases of meconium ileus are associated with cystic fibrosis.
A 6 month old baby boy is an inpatient on a paediatric hospital ward for a chest infection.
He has been sleeping quietly in his cot but when a nurse checks on him, he is unresponsive and looks blue.
The nurse ensures that it is safe to approach him, calls for help and opens his airway by tilting his head back and lifting his chin.
The nurse looks for chest movements and listens for breath sounds, observing infrequent, noisy gasps, less than once every 3 seconds.
She cannot feel a pulse.
Which of the following pulses should be felt for in a child of this age who is unresponsive?
Brachial pulse.
- Pulse should be felt in the neck (carotid pulse) in children over 1 year,
- or in the inner aspect of the upper arm (brachial pulse) in an infant.
A 35y year old primiparous woman has gone into spontaneous labour at 41 + 1.
The labour is prolonged and the baby has an APGAR score of 4 on delivery.
You start the clock and dry the baby immediately.
You notice that the baby has greenish-tinged skin and has an intercostal recession.
There is a poor cry.
What is the most likely diagnosis?
Meconium aspiration syndrome
Meconium can stain the skin of a baby and aspiration can result in respiratory distress.
A newborn boy is heard to have a systolic murmur during his newborn check. On gross inspection, he is noted to have a flattened nose, upward slanted eyes and a large tongue.
What is the most likely characterisation of his murmur?
(3)
Pan-systolic
The phenotype described is that of trisomy 21.
The most common cardiac defect associated with people with trisomy 21 is an atrio-ventricular septal defect (AVSD), which will have a pan-systolic murmur due to the ventricular septal defect (VSD).
A 2-week old neonate, born prematurely at 30 weeks’ gestation, has had 2 days of vomiting and 1 day of bloody stools.
The vomiting has occasionally been streaked with green, and occurs particularly after feeding with expressed breast milk.
The stool has also been streaked with fresh red blood.
The baby has also significantly deteriorated over the last few days, and has required IV fluids and has just been re-intubated for the first time since day 2 of life.
On examination, the baby’s abdomen is significantly distended. An abdominal X-ray shows distended loops of bowel with thin black lines within the white bowel walls.
What is the most appropriate management for this condition?
Broad spectrum antibiotics and parenteral nutrition
This premature infant with bile-streaked vomiting, blood-streaked stool, abdominal distention and intramural air on abdominal x-ray has necrotising enterocolitis.
The best initial management of necrotising enterocolitis is broad spectrum antibiotics and parenteral nutrition to prevent infection and rest the bowel.
A ten year old boy is referred by his GP to a paediatric urology clinic. He attends with his father.
The boy says that he is anxious about the small size of his penis and that he has not started to develop any pubic hair.
What is the first sign of puberty in boys and girls?
- Enlargement of the testes >4ml in boys
- development of the breasts in girls
A 4 year old boy is brought into the GP practice by his parents who has just moved to the area and only recently registered at the practice.
His parents report that he has been unwell with a cough, fever and appearing generally lethargic for the past 4 days.
They brought him into the practice today as he has now developed a rash all over his body.
On examination you note that his conjunctivas appear inflamed and there are a few grey spots visible on the inside of his left cheek.
On further review of the notes you cannot find any evidence of vaccinations being recorded since he was 3 months old.
What is the most likely complication associated with this condition?
Acute otitis media
This is a classic presentation of measles in an unvaccinated child.
Acute otitis media is the most common complication associated with measles infection.
A 6 year old girl presents to the GP for a follow up appointment for with joint pain and fever.
Her mother says she has complained of knee and wrist pain on and off for the last 3-4 months.
She has also had high fevers and has generally felt unwell.
On questioning, the mother remembers a pink rash on her daughter’s legs just before the joint pains started.
They made an appointment about 2 months ago for the same problems, and blood tests for that time showed no significant abnormalities (Haemoglobin 110, WCC 4.6, platelets 302, CRP 1.2). She denies weight change, night sweats and cough. She has not had any coughs or colds recently before the joint pain started. Regular ibuprofen has helped relieve some of the pain. The girl takes no other medicines, has no allergies and her vaccinations are up to date.
On examination, the knees and wrists are slightly swollen and all movements of these joints are mildly limited by pain. Her temperature is 37.9 degrees. You refer for physiotherapy and counsel the mother about starting a
What is the diagnosis?
How should she be treated?
Which of the following is a potential complication of this child’s chronic condition?
JIA
dihydrofolate reductase inhibitor
Anterior uveitis
This girl, with >6 weeks history of poly-articular joint pain, fevers and a preceding pink rash with no obvious infective or malignant cause, most likely has a diagnosis of juvenile idiopathic arthritis (JIA).
JIA is a diagnosis of exclusion and is a chronic condition requiring multidisciplinary team management.
A potential complication of JIA is chronic anterior uveitis.
A 15 year old male presents to his GP with a widespread maculopapular rash that developed over the past day.
He recently recovered from a flu-like illness and sore throat 1 week ago, for which he was given a course of antibiotics.
There are no other abnormalities on physical examination.
Which is the most likely cause of this patient’s rash?
Epstein Barr virus (EBV)
- This is the causative agent of infectious mononucleosis, which presents as a fever, sore throat and lymphadenopathy.
- If given amoxicillin, patients may develop a widespread maculopapular rash due to a hypersensitivity reaction.
A 15 year old boy presents to the GP with a lump in his neck.
The lump is located in anterior to the sternocleidomastoid, and is painless, firm and fixed.
He also reports three months of gradual weight loss, recurrent sore throats and night sweats.
You refer him for an urgent lymph node biopsy, which of the following findings would suggest the likely diagnosis?
Reed Sternberg cells
- These are giant B cells seen in patients with Hodgkin’s lymphoma.
- They are typically multinucleated and contain inclusions.
A premature newborn is admitted to NICU for artificial ventilation.
Which consequence of artificial ventilation is routinely screened for?
Retinopathy of prematurity
This is caused by the uncontrolled proliferation of blood vessels within the retina due to over oxygenation.
A mother brings her young daughter into the GP surgery as she is worried about her social development.
The doctor wants you to provide her with some reassurance and so ask which of the following is the most advanced skill that you would expect a child of normal development to be capable of at 18 months old?
- Able to use a cup and spoon to feed themselves
- They should also be able to remove shoes and socks.
18 months is the appropriate age for children to develop these skills.
A 3 year old girl is brought to the GP by her mother. She has had a cold for the last few days, but now developed a rash on her chin.
It blanches under pressure, but her mother remains worried about the cause.
She was previously well and is up to date with all scheduled immunisations.
On examination the girl has a fever of 38.5 degrees Celsius, with a maculopapular rash around her mouth, ulcerations on her tongue and blisters on the palms of her hands and the soles of her feet.
There are no signs of excoriation.
Which of the following is the most appropriate treatment option?
(3)
Supportive management.
- This girl presents with features in keeping with hand, foot and mouth disease, which does not require specific treatment.
- She should be encouraged to keep up her fluid intake and take paracetamol to reduce her fever and minimise pain or discomfort.
- The condition usually resolves within one week.
A 4 year old girl presents to the Emergency Department complaining of sudden onset shortness of breath and non-productive cough.
Her breath sounds are diminished and you notice a monophonic wheeze in the right lower zone.
Her mother tells you that her past medical history includes asthma and eczema.
Give the most likely diagnosis.
What is the most appropriate initial investigation?
Chest x-ray
This is a presentation of an inhaled foreign body, as indicated by the sudden shortness of breath and focal site of the chest findings.
A monophonic wheeze, especially in the right lower lobe of the lung is highly suggestive of an inhaled foreign body.
As such, this should be visualized using a chest x-ray. This is also appropriate in the Emergency Department.
A 18-day-old baby is brought to paediatric A&E by her mother.
The baby is visibly jaundiced, and the mother reports the baby has been very irritable and off her feeds since yesterday morning.
On examination, there is hepatomegaly.
Blood tests show normal full blood count and normal thyroid function tests, but raised liver transaminases and a very high conjugated bilirubin level.
What is the likely diagnosis?
Which of the following is the most appropriate first-line management for this condition?
Diagnosis of biliary atresia
Surgical intervention
- Prolonged jaundice, hepatomegaly and a raised conjugated bilirubin level make a diagnosis of biliary atresia highly likely.
- Urgent action is required, and the definitive management of this condition is a hepatoportoenterostomy (Kasai procedure).
- This involves removing blocked bile ducts and replacing them with a segment of the small intestine, facilitating bile drainage.
A 10-month-old girl is seen in the general paediatric clinic after being referred by her GP because her head circumference was found to be in the 99.6th percentile.
She was born at 40+2 weeks via spontaneous vaginal delivery after an uneventful pregnancy.
At birth, her head circumference was measured to be in the 75th percentile.
Her two siblings both have normal head circumferences.
Her mother reports that she often vomits in the morning before feeds, and is very lethargic and irritable during the day.
At 10 months she is still unable to sit up unsupported or grasp objects.
On examination, a tense anterior fontanelle is palpable, the sclerae are visible between the iris and upper eyelid of both eyes and distended veins are visible across her scalp.
What is the most likely underlying pathology?
Hydrocephalus
This child has presented with an enlarged head circumference and multiple features of raised intracranial pressure; vomiting, irritability, lethargy, rapid increased in head circumference and sunsetting of the eyes.
The tense anterior fontanelle, distended scalp veins and signs of raised pressures make a diagnosis of hydrocephalus likely.
A 10 month old baby girl is brought to the GP with a blistering rash on her face and fever of 39.5 degrees. She usually has eczema on her cheeks, chest and elbows which her parents manage with soap substitutes, emollients and topical steroids.
On examination, she has tightly grouped vesicles containing clear fluid over an erythematous base on the right cheek, and eczematous erythematous plaques on the bilateral cheeks and chest. She appears unwell.
What is the most likely diagnosis?
What is the most appropriate drug therapy?
Acyclovir
This unwell child with blisters appearing over poorly controlled eczema is suspicious for eczema herpeticum.
Eczema herpeticum is a serious infection and a dermatological emergency.
Urgent anti-viral therapy with acyclovir is required.
A concerned mother brings her 5-year-old son to paediatric A&E because she has noticed a new non-blanching rash and is worried her son has meningitis.
The mother reports that her son has complained of a sore throat and cough over the past few days, which has since improved.
On examination, the boy’s legs are covered with a petechial rash.
Blood tests show low platelets but no other abnormalities.
What is the most likely diagnosis?
Which of the following is the best next step in the management of this patient?
- Immune thrombocytopenic purpura
- Reassure the mother this is a self-limiting illness
The purpuric rash in combination with an isolated thrombocytopenia make immune thrombocytopenic purpura (ITP) the most likely diagnosis, which can commonly follow a viral infection or vaccination.
In children it is a self-limiting disease and the majority of cases resolve spontaneously within 3-6 months.
A 15-year-old boy is seen in paediatric A&E with his parents after being referred by his GP for a 6 month history of intermittent right hip pain and associated limp.
The pain is worse on movement.
There is no known history of trauma and he is otherwise well.
On clinical examination, he has an antalgic gait, and his right leg is flexed and externally rotated.
There is marked restriction of internal rotation and abduction in the right leg. Examination of the left hip is unremarkable. His weight is measured to be in the 90th centile and height in the 25th centile.
Which of the following is the most likely diagnosis?
Slipped Capital Femoral Epiphysis
This child is overweight, and has presented with chronic unilateral hip pain with an associated limp, which makes the most likely diagnosis slipped capital femoral epiphysis (SCFE).
Classically the affected hip is also flexed and the leg externally rotated, with pain worse on movement (especially internal rotation and abduction). SCFE is more common in males and around 80% of these are obese.
A 3 year old boy is brought to the GP because of abdominal pain.
His mum says that he complains of achey abdominal pain all the time.
It is worse after meals and better if he eats fruit.
He opens his bowels once every 3 days in hard small pellets that are hard to pass. There has never been any blood in his stool.
He eats a diet of cereals, meat and some fruit and vegetables.
He was born at term after a normal pregnancy, and passed urine and stool within the first few hours of life.
He was toilet trained and became continent of urine at around age 2, but he still poos into nappies.
His mum says she has tried to make him poo in a potty, but he doesn’t like it and prefers to go and hide behind the sofa to poo into his nappy.
He has no known medical problems, is growing well and takes no medicines.
On examination, his abdomen is mildly distended.
There are hard depressible masses are palpable along the left and right sides of the abdomen.
What is the best next step in management for this child?
Movicol
This 3 year old with abdominal pain that improves with fruit, hard pellet-like stool and faecal loading on abdominal examination with no red flag features most likely has chronic constipation of childhood.
This is particularly common in children who were late to toilet train. As the rectum fills, if it is not emptied, the full rectum is stretched too far for the stretch receptors to fire.
This results in a loss of the sensation of needing to pass stool. The best first step in management for chronic constipation with palpable faecal loading is a movicol dis-impaction plan.
A five-year old boy presents to the emergency department with a two day history of vomiting and diarrhoea. He is listless, has sunken eyes and reduced skin turgor.
Assuming he weighs 22-kg, what is the most appropriate fluid regime for maintenance?
1540ml/day
The total maintenance fluid requirements for children over 24-hours are calculated as follows: 100ml/kg for the first 10 kg; 50ml/kg for the second 10 kg; and 20ml/kg for each kilogram over 20 kg.
A 4 year old boy presents to the GP with a limp.
For the last 2 days, his mother noticed he has been walking strangely and complaining that his left knee hurts.
Since this morning, he has cried whenever he is standing and refuses to take more than a couple of steps.
He is a healthy child, apart from a bad cold about 2 weeks ago.
He is a healthy weight with no recent change.
Everyone else in the family is well.
On inspection, the boy is miserable but appears well.
On examination of the left hip, there is no erythema or oedema, the joint is mildly tender to palpation, and internal rotation is limited by pain.
The right hip and knees have no obvious abnormalities.
His temperature is 37.7 degrees.
What is the most likely cause of this child’s limp?
Recent viral upper respiratory tract infection
This well-appearing child with acute onset non-weight bearing limp and low-grade fever following a recent viral infection most likely has a diagnosis of transient synovitis.
The underlying trigger for the inflammation of the synovial membrane in transient synovitis is a preceding viral infection.
A 3 year old girl is brought to the GP by her mother.
She has had a cold for the last few days, but now developed a rash on her chin.
It blanches under pressure, but her mother remains worried about the cause.
She was previously well and is up to date with all scheduled immunisations.
On examination the girl has a fever of 38.5 degrees Celsius, with a maculopapular rash around her mouth, ulcerations on her tongue and blisters on the palms of her hands and the soles of her feet.
There are no signs of excoriation.
Which of the following is the most likely cause of her symptoms?
Hand, foot and mouth disease.
Hand, foot and mouth disease presents with blisters on the hands and feet and ulcerations on the tongue, as well as a fever.
A 1-day-old neonate on the post natal ward is due to have his newborn baby assessment.
The baby boy was born at term via spontaneous vaginal delivery following an uneventful pregnancy.
On inspection, up-slanting palpebral fissures, epicanthic folds and a single palmar crease are noted.
Cardiovascular examination reveals a heart rate of 140 bpm, normal femoral pulses and a harsh pansystolic murmur loudest at the left lower sternal edge.
The murmur does not change with position.
Which of the following is the most likely underlying cardiac defect?
Ventricular Septal Defect
Ventricular septal defects (VSD) classically cause a harsh pansystolic murmur loudest at the left lower sternal border; the louder the murmur the smaller the defect.
The dysmorphic features described are also characteristic of Down syndrome, congenital VSDs are frequently associated with other congenital abnormalities like Down syndrome
A 3 year old boy is brought to A&E by his mum with vomiting and lethargy.
Two days ago, he got a fever and developed red spots that turned into little blisters all over his body.
He was eating and drinking a bit less than normal, but reasonably well.
His mum gave him some aspirin this morning (she had run out of paracetamol that she normally gives him for fevers), and a few hours later he started vomiting and became really tired.
He is normally well and takes no regular medicines and has no known allergies. His vaccines are up to date. He does not have a rash, headache or neck stiffness.
On inspection, he appears unwell and is slurring his words. He is tachypnoeic and saturations are 100% in air, heart rate 110, capillary refill 2 seconds and temperature 38.0. His liver is palpable 1cm below the costal margin.
What is the most likely diagnosis?
Which of the following investigations would confirm the most likely diagnosis in this case?
Liver biopsy
This child, with a rash and fever consistent with chickenpox and vomiting, lethargy, slurred speech and hepatomegaly after taking aspirin, most likely has a diagnosis of Reye’s syndrome.
Reye’s syndrome causes liver failure and subsequent encephalopathy after aspirin treatment for viral infections in children.
The diagnosis can be confirmed with hepatocyte microvesicular steatosis on liver biopsy.
Which food items have the highest phenylalanine content?
aspartame is used in sugar-free drinks like diet soda and squash and sugar-free chewing gum.
PKU
Inheritance pattern (1)
Presenting features (3)
Inheritance pattern (1)
- autosomal recessive mutation
Presenting features (3)
- learning disabilities
- seizures
- poor growth
A 3-year-old boy presents to A&E with his mother as she is concerned that he has been limping for the last 48 hours. He has been extremely lethargic at home, and this morning he refused to put any pressure on his left leg due to pain in his hip. He is otherwise fit and well, apart from a throat infection last week.
On examination, his left hip is mildly swollen and erythematous with range of movement reduced in all planes due to significant pain. He has an antalgic gait and is still refusing to weight bear on his left side. Examination of both knees and right hip are unremarkable.
His vital observations are: temperature 37.2ºC, heart rate 124 bpm, respiratory rate 22/minute, oxygen saturations 98% on air. His blood results are unremarkable with a white cell count, ESR and CRP all within normal range.
Which of the following is the most likely diagnosis?
Transient synovitis
This is the correct answer. Distinguishing between transient synovitis and septic arthritis can be clinically challenging as there is significant symptom overlap. Kocher’s criteria states certain factors that makes a diagnosis of septic arthritis more likely:
- Fever > 38.5ºC
- Refusal to weight bear on affected side
- Raised Inflammatory markers: ESR > 40; CRP > 20
- Raised White Cell Count > 12000 cells/mm^3
As this child has only scored one point, the chance of him having septic arthritis is 3%, making transient synovitis the most likely diagnosis.
Kocher’s criteria for differentiating between septic arthritis and transient synovitis (4)
Kocher’s criteria states certain factors that makes a diagnosis of septic arthritis more likely:
- Fever > 38.5ºC
- Refusal to weight bear on affected side
- Raised Inflammatory markers: ESR > 40; CRP > 20
- Raised White Cell Count > 12000 cells/mm^3
A three month old boy presents to the Emergency Department with a fever and poor feeding.
His urine dipstick was positive for white cells and nitrates and he was treated with intravenous antibiotics for a urinary tract infection.
An ultrasound scan of the renal tract was performed after the resolution of symptoms.
It showed bilateral dilated ureters and small kidneys.
Give the likely diagnosis
What investigation is diagnostic?
Micturating cystourethrogram
- The diagnosis here is vesicoureteric reflux.
- It is caused by the abnormal insertion of the ureters into the bladder, allowing urine to reflux on micturition.
- There is a risk of renal scarring and chronic kidney disease.
- Functional scans, like the MCUG, should be postponed until three months after a urinary tract infection.
An 18 month old baby girl is brought to the GP with a runny nose, cough and low grade fever for the past 2 days.
Her mother reports that she is usually fit and well with no medical problems.
Although the lung fields are clear to auscultation, an ejection systolic murmur is heard at the upper left sternal border.
The first heart sound is followed by a split second heart sound that does not vary with inspiration or exhalation.
What is the underlying cause of this presentation?
Atrial septal defect
This child presenting with a
- pulmonary ejection murmur
- and a fixed split second heart sound
has an atrial septal defect.
A 14 year old boy with learning difficulties presents to the GP with his parents for follow up of anxiety.
He has suffered from severe anxiety in social situations since early childhood, and often bites his hands to help himself cope.
He also has epilepsy which is well controlled on valproic acid.
On inspection, he appears well but will not make eye contact with you.
He has a long thin face, a large jaw and his ears stick out prominently.
He repeats everything you say to him. His chest is clear to auscultation.
Heart sounds I + II are present, with a 2/6 systolic murmur with mid-systolic click loudest at the apex.
What is the most likely underlying genetic abnormality in this patient?
Trinucleotide repeat
This teenager with learning difficulties and epilepsy, social anxiety, poor eye contact, echolalia (repeating your speech), mitral valve prolapse and prominent ears and jaw with a long thin face most likely has a diagnosis of fragile X syndrome.
The underlying genetic defect in fragile X syndrome is a trinucleotide repeat in the FMR1 (familial mental retardation 1) gene.
A 14-year-old boy presents to the GP with abdominal pain, arthralgia and a non-blanching purpuric rash on his shins.
He is normally fit and well; however, for the last week he has been suffering from coryzal symptoms.
Which diagnosis does the doctor suspect?
Which of the following is the next best step in the management of this patient?
- The doctor suspects a diagnosis of Henoch-Schonlein Purpura.
- Urine dip
The patient is presenting with the classic triad of;
- abdominal pain
- arthralgia
- purpura on the extensor surfaces
It is important to establish whether there is any renal involvement as IgA immune complexes can deposit in the kidneys and cause haematuria and proteinuria.
A 15 month old child has a history of epilepsy and has difficulty walking. The gait of the child is ‘scissor walking’.
The mother reports that the labour was complicated by shoulder dystocia.
The APGAR score at birth was 4 and the neonate required a stay in the neonatal intensive care unit (NICU) for a few days.
What is the most likely location for the pathology seen in this presentation?
Periventricular damage (due to a hypoxic ischaemic event during a prolonged delivery due to the baby getting stuck) is the aetiology behind spastic diplegia.
The gait is classically termed as scissor walking.
You are an FY2 working on paediatrics. You are doing a new baby check on a 2 day old baby girl.
On examination, she appears well, alert, and is moving all four limbs spontaneously. You note that she has a webbed neck and widely spaced nipples. Her respiratory rate is 40. The oxygen saturations on her right hand measure 99%, and when taken on her right foot measure 80%. You feel a strong right radial pulse and a weak slightly delayed right femoral pulse.
Which of the following is the most likely explanation for this patient’s physical findings?
Narrowing of the aorta
This baby with a significant difference in saturations between the
- right upper and lower limb (>3%)
- and radio-femoral delay most
likely has co-arctation of the aorta.
A 6 year old boy presents to the GP with his mother.
Over the last 48 hours he has had a sore throat, headache and fever.
In the last 24 hours he has developed an erythematous rash over his face and torso.
He was previously well and is up to date with all scheduled immunisations.
On examination the rash is coarse to touch and blanches under pressure. His tongue appears bright red but there are no ulcerations.
There are no lesions inside his mouth or elsewhere on his body.
Which of the following options is the most appropriate treatment?
Antibiotic therapy.
This boy presents with features in keeping with scarlet fever, which initially presents with non-specific features such as headache, fever, sore throat.
The characteristic rash is described as ‘sandpaper’ texture and children can develop ‘strawberry tongue’, named as the tongue appears bright red.
Scarlet fever is treated with antibiotic therapy.
A 32 year old woman has just given birth to a term baby who had an APGAR score of 4, due to respiratory distress.
Her symphysis fundal height at 40 weeks was found to be 34cm.
The baby is noted to have;
- clubbed feet
- low set ears
- dry loose skin
- the chest X-ray shows smaller lung fields
What is the most common cause of this presentation?
Bilateral renal agenesis
This is one of the main causes of Potter’s syndrome, which would present with the characteristics in this question.
A 14-year-old girl presents to the GP with her mother, as she is concerned about a rash that has developed on her chest.
Last week she was seen by another GP for a sore throat, abdominal pain and fever.
She was diagnosed with bacterial tonsillitis and started on Amoxicillin.
The rash developed on day 5 of treatment.
On inspection, an erythematous maculopapular rash and excoriations are noted across her trunk and upper arms.
Which of the following is the most likely cause of the rash?
Morbilliform Eruption
A morbilliform eruption is characterised by a generalised maculopapular rash.
This child presented with lymphadenopathy, fever, abdominal pain and sore throat most likely as a result of infectious mononucleosis, not bacterial tonsillitis.
Morbilliform reactions are extremely common in patients with infectious mononucleosis taking Amoxicillin.
A 3-year-old is brought to the GP by his father, with a 24 hour history of several blisters around his mouth and nose.
He has no personal history of eczema; however, his mother suffers from both eczema and asthma.
On further questioning, his father reports that several children at his nursery have developed a similar rash over the last week.
On examination, there are several honey-coloured crusted erosions and pustules around his nasolabial folds.
The pustules are localised to this area only.
Which of the following is the most likely diagnosis?
Impetigo
Impetigo is a superficial bacterial skin infection typically caused by either Staphylococcus Aureus or Streptococcus Pyogenes. Characteristic lesions are thin-walled pustules/vesicles that rupture to form golden-brown crusts (as described in the stem). Impetigo is extremely infectious, so it is likely that the child has caught it from the other children in nursery.
A 6 year old boy presents to the GP with his mother.
Over the last 48 hours he has had a sore throat, headache and fever.
In the last 24 hours he has developed an erythematous rash over his neck and torso.
He was previously well and is up to date with all scheduled immunisations.
On examination, the rash is coarse to touch and blanches under pressure.
His tongue appears bright red but there are no ulcerations. There are no lesions inside his mouth or elsewhere on his body.
What is the diagnosis?
Which of the following options is the most appropriate advice to give his mother about the risk of passing the infection to other children?
He will be infectious until 24 hours after the first dose of antibiotics and should not return to school until then.
This boy presents with features in keeping with scarlet fever, which is contagious until antibiotic therapy is established.
A 7 year old boy is brought to the Emergency Department because of redness and swelling around his right eye for the last 24 hours.
He has had a cold recently but has still been going to school.
He has not had a headache, cough or visual changes.
He is normally a healthy child and takes no medications.
On inspection, there is erythema and oedema around the eyelid of the right eye, with mild tenderness on palpation.
The left eye appears normal.
On neurological examination, visual acuity and eye movements are within normal limits.
His temperature is 37.1 degrees. A urine dip shows no abnormality.
What is the next most appropriate step in management?
IV antibiotics
This child with erythema and oedema around one eye but normal visual acuity and eye movements most likely has preseptal cellulitis.
Preseptal cellulitis is an infection of the superficial tissues around the eyelid.
The majority of paediatric cases require immediate empirical intravenous antibiotic therapy for 2 to 5 days because of the risk of occult orbital cellulitis or, rarely, worsening to orbital cellulitis and its complications.
Alternatively, empirical oral therapy may be initiated in children with reliable daily follow-up.
A 1 year old girl is brought in to A/E by her parents as they are concerned about her breathing.
She has been feeling unwell with the flu over the last few days.
The parents describe a barking cough.
They think she has had all her immunisations.
She has a high grade fever.
A constant high-pitched sound on inspiration can be heard and she has a hoarse voice.
Humidified oxygen, dexamethasone and nebulised adrenaline is given.
The symptoms do not improve.
What is the most likely diagnosis?
Bacterial tracheitis
Always consider bacterial tracheitis in a barking cough with continuous stridor that does not resolve.
A 9 month old boy is rushed into the paediatric emergency department with an ongoing seizure which has failed to terminate following initial treatment with buccal midazolam.
Following a full DRABC assessment and further treatment with IV lorazepam his seizure is successfully terminated and he is transferred to the paediatric high dependency unit for further management.
On review it is noted that he has 4 large hypo pigmented macules each measuring over 2cm in diameter on his back and torso.
There is also noted to be angiofibromas on the nose.
Ophthalmological examination reveals the presence of a small retinal hamartoma in the right eye.
An electroencephalogram (EEG) is requested and shows evidence of hypsarrhythmia.
An echocardiogram comes back as normal.
The paediatric consultant requests an MRI head and in the meantime asks you what is most likely to be the diagnosis?
Tuberous sclerosis complex
Tuberous sclerosis complex is the most likely diagnosis given the history and you would expect the MRI head to show evidence of benign tubers in the cerebral hemispheres.
The hypo pigmented macules described (ash leaf spots) and angiofibromas of the nose are all characteristic of tuberous sclerosis.
Tuberous sclerosis is also associated with epilepsy and the hypsarrhythmia if a classic finding on electroencephalogram.
